syndroom van Duane-anomalie, myopathie en scoliose (aandoening) DEPRECATED
syndroom van Duane-anomalie, myopathie en scoliose
syndroom van Verloes-Deprez
Duane anomaly, myopathy, scoliosis syndrome
Verloes Deprez syndrome
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.
Id722432000
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2025-07-01)
REPLACED BY association reference set702381007 | horizontale blikverlamming met progressieve scoliose | (2025-07-01)
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map50817